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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0029421 | Osteochondritis Dissecans | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0729346 | Osteochondritis juvenilis | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0029422 | Osteochondrodysplasias | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0029422 | Osteochondrodysplasias | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0029422 | Osteochondrodysplasias | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0029422 | Osteochondrodysplasias | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0029422 | Osteochondrodysplasias | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0029422 | Osteochondrodysplasias | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0029422 | Osteochondrodysplasias | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0029422 | Osteochondrodysplasias | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0029422 | Osteochondrodysplasias | CHST1 | 8534 | carbohydrate sulfotransferase 1 | O43916 |
| C0029422 | Osteochondrodysplasias | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0029422 | Osteochondrodysplasias | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0029422 | Osteochondrodysplasias | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0029422 | Osteochondrodysplasias | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0029422 | Osteochondrodysplasias | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0029422 | Osteochondrodysplasias | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0029422 | Osteochondrodysplasias | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0029422 | Osteochondrodysplasias | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0029422 | Osteochondrodysplasias | CTSA | 5476 | cathepsin A | P10619 |
| C0029422 | Osteochondrodysplasias | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0029422 | Osteochondrodysplasias | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0029422 | Osteochondrodysplasias | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0029422 | Osteochondrodysplasias | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0029422 | Osteochondrodysplasias | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
